Variant iconVariant List

ID Chr Associated Gene HGVS Clinical Significance Zygosity Allele Origin Affected Status Associated Diseases
DPV:379 1 NM_000028.2:c.2813-2A>C
  • Likely pathogenic
  • unknown
  • germline
  • yes
DPV:380 1 NM_000028.2:c.3808A>T
  • Likely pathogenic
  • unknown
  • germline
  • yes
DPV:381 1 NM_005465.4:c.686A>G
  • Pathogenic
  • single heterozygote
  • de novo
  • germline
  • yes
DPV:382 1 NM_181690.2:c.487A>T
  • Likely pathogenic
  • unknown
  • germline
  • yes
DPV:383 1 NM_018136.4:c.10168C>T
  • Likely pathogenic
  • unknown
  • germline
  • yes
DPV:384 1 NM_001039802.1:c.191A>G
  • Pathogenic
  • single heterozygote
  • de novo
  • yes
DPV:385 1 NM_001854.3:c.3168+5G>A
  • Pathogenic
  • single heterozygote
  • de novo
  • yes
DPV:387 1 NM_001005752:c.250G>A
  • Pathogenic
  • unknown
  • unknown
  • unknown
DPV:388 1 NM_001005752:c.580G>A
  • Pathogenic
  • unknown
  • germline
  • no
DPV:389 1 NM_006147.3:c.1186C>T
  • Pathogenic
  • single heterozygote
  • inherited
  • yes
DPV:390 1 NM_006147.3:c.134G>A
  • Pathogenic
  • single heterozygote
  • inherited
  • yes
DPV:393 1 NM_004700:c.689T>A
  • Pathogenic
  • single heterozygote
  • germline
  • yes
DPV:394 1 NM_004700:c.808T>C
  • Pathogenic
  • single heterozygote
  • de novo
  • yes
DPV:395 1 NM_004700:c.827G>C
  • Pathogenic
  • single heterozygote
  • germline
  • inherited
  • yes
DPV:396 1 NM_004700:c.871C>T
  • Pathogenic
  • single heterozygote
  • germline
  • yes
DPV:397 1 NM_004700:c.872C>T
  • Pathogenic
  • single heterozygote
  • germline
  • yes
DPV:398 1 NM_004700:c.891G>T
  • Pathogenic
  • single heterozygote
  • germline
  • yes
DPV:399 1 NM_004700:c.2014G>A
  • Pathogenic
  • single heterozygote
  • germline
  • yes
DPV:400 1 NM_001134673.3:c.1094delC
  • Pathogenic
  • single heterozygote
  • de novo
  • yes
DPV:401 1 NM_000447.2:c.1262C>T
  • Pathogenic
  • single heterozygote
  • de novo
  • yes